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Items: 1 to 20 of 91

1.

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.

Hosono K, Kawase K, Kurata K, Niimi Y, Saitsu H, Minoshima S, Ohnishi H, Yamamoto T, Hikoya A, Tachibana N, Fukao T, Yamamoto T, Hotta Y.

Ophthalmic Genet. 2020 Mar 30:1-8. doi: 10.1080/13816810.2020.1744019. [Epub ahead of print]

PMID:
32223580
2.

Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1.

Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M, Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y.

Am J Med Genet A. 2020 Mar 27. doi: 10.1002/ajmg.a.61575. [Epub ahead of print]

PMID:
32220057
3.

Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.

Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group.

Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3.

4.

Novel biallelic splice-site BBS1 variants in Bardet-Biedle syndrome: a case report of the first Japanese patient.

Katagiri S, Hosono K, Hayashi T, Murai N, Wake E, Miyata I, Mizobuchi K, Kurata K, Matsuura T, Nakano T, Hotta Y.

Doc Ophthalmol. 2020 Jan 29. doi: 10.1007/s10633-020-09752-5. [Epub ahead of print]

PMID:
31997113
5.

Retinal structure in Leber's congenital amaurosis caused by RPGRIP1 mutations.

Miyamichi D, Nishina S, Hosono K, Yokoi T, Kurata K, Sato M, Hotta Y, Azuma N.

Hum Genome Var. 2019 Jun 27;6:32. doi: 10.1038/s41439-019-0064-8. eCollection 2019.

6.

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.

Hayashi T, Hosono K, Kurata K, Katagiri S, Mizobuchi K, Ueno S, Kondo M, Nakano T, Hotta Y.

Doc Ophthalmol. 2020 Apr;140(2):147-157. doi: 10.1007/s10633-019-09727-1. Epub 2019 Oct 3.

PMID:
31583501
7.

Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.

Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T.

Ophthalmology. 2019 Nov;126(11):1557-1566. doi: 10.1016/j.ophtha.2019.05.027. Epub 2019 Jun 6.

PMID:
31257036
8.

Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.

Koyanagi Y, Akiyama M, Nishiguchi KM, Momozawa Y, Kamatani Y, Takata S, Inai C, Iwasaki Y, Kumano M, Murakami Y, Omodaka K, Abe T, Komori S, Gao D, Hirakata T, Kurata K, Hosono K, Ueno S, Hotta Y, Murakami A, Terasaki H, Wada Y, Nakazawa T, Ishibashi T, Ikeda Y, Kubo M, Sonoda KH.

J Med Genet. 2019 Oct;56(10):662-670. doi: 10.1136/jmedgenet-2018-105691. Epub 2019 Jun 17.

PMID:
31213501
9.

Multicenter open-label randomized phase II study of second-line panitumumab and irinotecan with or without fluoropyrimidines in patients with KRAS wild-type metastatic colorectal cancer (PACIFIC study).

Nagata N, Maeda H, Ishibashi K, Hirata K, Makiyama A, Iwamoto S, Takemoto H, Imasato M, Yoshida Y, Munemoto Y, Tanaka C, Morita Y, Hotta Y, Toyofuku A, Nagasaka T, Morita S, Sakamoto J, Mishima H.

Med Oncol. 2019 Apr 24;36(6):46. doi: 10.1007/s12032-019-1254-4.

PMID:
31020480
10.

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants.

Haque MN, Kurata K, Hosono K, Ohtsubo M, Ohishi K, Sato M, Minoshima S, Hotta Y.

Hum Genome Var. 2019 Apr 12;6:18. doi: 10.1038/s41439-019-0048-8. eCollection 2019.

11.

X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.

Kurata K, Hosono K, Hayashi T, Mizobuchi K, Katagiri S, Miyamichi D, Nishina S, Sato M, Azuma N, Nakano T, Hotta Y.

Int J Mol Sci. 2019 Mar 26;20(6). pii: E1518. doi: 10.3390/ijms20061518.

12.

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T.

Sci Rep. 2018 Jul 31;8(1):11507. doi: 10.1038/s41598-018-29891-9.

13.

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.

Kurata K, Hosono K, Hotta Y.

Doc Ophthalmol. 2018 Aug;137(1):47-56. doi: 10.1007/s10633-018-9649-7. Epub 2018 Jul 19.

PMID:
30027431
14.

Changes in conjunctival-scleral thickness after strabismus surgery measured with anterior segment optical coherence tomography.

Suzuki H, Hikoya A, Komori M, Inagaki R, Haseoka T, Arai S, Takagi Y, Hotta Y, Sato M.

Jpn J Ophthalmol. 2018 Sep;62(5):554-559. doi: 10.1007/s10384-018-0609-2. Epub 2018 Jul 6.

PMID:
29980870
15.

Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.

Hosono K, Nishina S, Yokoi T, Katagiri S, Saitsu H, Kurata K, Miyamichi D, Hikoya A, Mizobuchi K, Nakano T, Minoshima S, Fukami M, Kondo H, Sato M, Hayashi T, Azuma N, Hotta Y.

Sci Rep. 2018 May 29;8(1):8279. doi: 10.1038/s41598-018-26524-z.

16.

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants.

Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y.

Mol Vis. 2018 Apr 9;24:286-296. eCollection 2018.

17.

Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.

Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y.

Jpn J Ophthalmol. 2018 Jul;62(4):458-466. doi: 10.1007/s10384-018-0591-8. Epub 2018 Apr 17.

PMID:
29666954
18.

Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.

Kurata K, Hosono K, Hotta Y.

Jpn J Ophthalmol. 2018 Mar;62(2):186-193. doi: 10.1007/s10384-017-0560-7. Epub 2018 Jan 5.

PMID:
29305715
19.

ATYPICAL FORM OF RETINOPATHY OF PREMATURITY WITH SEVERE FIBROVASCULAR PROLIFERATION IN THE OPTIC DISK REGION.

Yokoi T, Katagiri S, Hiraoka M, Nakayama Y, Hosono K, Hotta Y, Nishina S, Azuma N.

Retina. 2018 Aug;38(8):1605-1612. doi: 10.1097/IAE.0000000000001779.

PMID:
28800017
20.

Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.

Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta H, Minoshima S, Hotta Y.

Semin Ophthalmol. 2018;33(4):560-565. doi: 10.1080/08820538.2017.1340487. Epub 2017 Jul 5.

PMID:
28678594

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